Canonical Allele Identifier: CA2716138

Gene: CCDC39

Linked Data

• dbSNP Id: rs755372916
• ExAC: 3:180377491 C / G
• gnomAD v2: 3-180377491-C-G
• MyVariant Identifiers: chr3:g.180377491C>G (hg19) ; chr3:g.180659703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659703C>G , CM000665.2:g.180659703C>G	GRCh38
NC_000003.11:g.180377491C>G , CM000665.1:g.180377491C>G	GRCh37
NC_000003.10:g.181860185C>G	NCBI36
NG_029581.1:g.24793G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.583G>C MANE Select	ENSP00000417960.2:p.Glu195Gln
ENST00000650641.1:n.662G>C
ENST00000650889.1:n.755G>C
ENST00000651046.1:c.583G>C	ENSP00000499175.1:p.Glu195Gln
ENST00000651818.1:n.725G>C
ENST00000652024.1:n.674G>C
ENST00000652408.1:n.720G>C
ENST00000442201.6:c.583G>C	ENSP00000405708.2:p.Glu195Gln
ENST00000476379.5:c.583G>C	ENSP00000417960.1:p.Glu195Gln
NM_181426.1:c.583G>C	NP_852091.1:p.Glu195Gln
NM_181426.2:c.583G>C MANE Select	NP_852091.1:p.Glu195Gln